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Items: 38

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrMT:5782-13922
GRCh38:
ChrMT:5782-13922
Primary dilated cardiomyopathy, Macrocytic dyserythropoietic anemiaLikely pathogenic
(Nov 4, 2014)
criteria provided, single submitter
2.
GRCh37:
ChrMT:5794-14876
GRCh38:
ChrMT:5794-14876
Primary dilated cardiomyopathy, Macrocytic dyserythropoietic anemiaLikely pathogenic
(Nov 4, 2014)
criteria provided, single submitter
3.
GRCh37:
ChrMT:6468-15586
GRCh38:
ChrMT:6468-15586
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
4.
GRCh37:
ChrMT:7126-13988
GRCh38:
ChrMT:7126-13988
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
5.
GRCh37:
ChrMT:8290-13040
GRCh38:
ChrMT:8290-13040
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
6.
GRCh37:
ChrMT:8350-13450
GRCh38:
ChrMT:8350-13450
Pearson syndromePathogenic
(Jun 12, 2019)
no assertion criteria provided
7.
GRCh37:
ChrMT:8470-13446
GRCh38:
ChrMT:8470-13446
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
8.
GRCh37:
ChrMT:8480-13440
GRCh38:
ChrMT:8480-13440
Pearson syndromePathogenic
(Jun 12, 2019)
no assertion criteria provided
9.
GRCh37:
ChrMT:8585-12965
GRCh38:
ChrMT:8585-12965
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
10.
GRCh37:
ChrMT:8815-13722
GRCh38:
ChrMT:8815-13722
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
11.
GRCh37:
ChrMT:8839-14895
GRCh38:
ChrMT:8839-14895
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
12.
GRCh37:
ChrMT:10105-15066
GRCh38:
ChrMT:10105-15066
Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
13.
GRCh37:
ChrMT:11263-15374
GRCh38:
ChrMT:11263-15374
MT-CYB, MT-ND4, MT-ND5, MT-ND6, MT-TS2, MT-TE, MT-TH, MT-TL2Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
14.
GRCh37:
ChrMT:12114-14420
GRCh38:
ChrMT:12114-14420
MT-ND4, MT-ND6, MT-TH, MT-TL2, MT-ND5, MT-TS2Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
15.
GRCh37:
ChrMT:12271
GRCh38:
ChrMT:12271
MT-TL2Mitochondrial diseasePathogenic
(May 4, 2022)
criteria provided, single submitter
16.
GRCh37:
ChrMT:12273
GRCh38:
ChrMT:12273
MT-TL2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
17.
GRCh37:
ChrMT:12276
GRCh38:
ChrMT:12276
MT-TL2Juvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic
(Jul 12, 2019)
criteria provided, single submitter
18.
GRCh37:
ChrMT:12278
GRCh38:
ChrMT:12278
MT-TL2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
19.
GRCh37:
ChrMT:12279
GRCh38:
ChrMT:12279
MT-TL2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely benign
(Jul 12, 2019)
criteria provided, single submitter
20.
GRCh37:
ChrMT:12279
GRCh38:
ChrMT:12279
MT-TL2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
21.
GRCh37:
ChrMT:12280
GRCh38:
ChrMT:12280
MT-TL2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
22.
GRCh37:
ChrMT:12281
GRCh38:
ChrMT:12281
MT-TL2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
23.
GRCh37:
ChrMT:12283
GRCh38:
ChrMT:12283
MT-TL2Mitochondrial diseasePathogenic
(May 22, 2017)
no assertion criteria provided
24.
GRCh37:
ChrMT:12285
GRCh38:
ChrMT:12285
MT-TL2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
25.
GRCh37:
ChrMT:12291
GRCh38:
ChrMT:12291
MT-TL2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
26.
GRCh37:
ChrMT:12293
GRCh38:
ChrMT:12293
MT-TL2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
27.
GRCh37:
ChrMT:12295
GRCh38:
ChrMT:12295
MT-TL2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
28.
GRCh37:
ChrMT:12297
GRCh38:
ChrMT:12297
MT-TL2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
29.
GRCh37:
ChrMT:12302
GRCh38:
ChrMT:12302
MT-TL2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
30.
GRCh37:
ChrMT:12302
GRCh38:
ChrMT:12302
MT-TL2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Mar 15, 2020)
criteria provided, single submitter
31.
GRCh37:
ChrMT:12305-12306
GRCh38:
ChrMT:12305-12306
MT-TL2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
32.
GRCh37:
ChrMT:12308
GRCh38:
ChrMT:12308
MT-TL2Mitochondrial diseaseBenign
(Jan 10, 2022)
reviewed by expert panel
FDA Recognized Database
33.
GRCh37:
ChrMT:12311
GRCh38:
ChrMT:12311
MT-TL2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeBenign
(Jul 12, 2019)
criteria provided, single submitter
34.
GRCh37:
ChrMT:12315
GRCh38:
ChrMT:12315
MT-TL2Juvenile myopathy, encephalopathy, lactic acidosis AND strokePathogenic
(Jul 12, 2019)
criteria provided, single submitter
35.
GRCh37:
ChrMT:12317
GRCh38:
ChrMT:12317
MT-TL2not specifiedUncertain significance
(May 4, 2022)
criteria provided, single submitter
36.
GRCh37:
ChrMT:12318
GRCh38:
ChrMT:12318
MT-TL2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeUncertain significance
(Jul 12, 2019)
criteria provided, single submitter
37.
GRCh37:
ChrMT:12320
GRCh38:
ChrMT:12320
MT-TL2Inborn mitochondrial myopathyPathogenic
(Feb 1, 1997)
no assertion criteria provided
38.
GRCh37:
ChrMT:12335
GRCh38:
ChrMT:12335
MT-TL2Juvenile myopathy, encephalopathy, lactic acidosis AND strokeLikely pathogenic
(Jul 12, 2019)
criteria provided, single submitter
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